Linked Data
ClinVar Variation Id:
297790
dbSNP Id:
rs199925943
ExAC:
1:5925273 G / A
gnomAD v2:
1-5925273-G-A
gnomAD v3:
1-5865213-G-A
gnomAD v4:
1-5865213-G-A
COSMIC:
COSM83865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5865213G>A , CM000663.2:g.5865213G>A | GRCh38 |
| NC_000001.10:g.5925273G>A , CM000663.1:g.5925273G>A | GRCh37 |
| NC_000001.9:g.5847860G>A | NCBI36 |
| NG_011724.2:g.132259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3705C>T MANE Select | ENSP00000367398.4:p.Arg1235= | |
| ENST00000378156.8:c.3705C>T | ENSP00000367398.4:p.Arg1235= | |
| ENST00000378161.5:n.1968C>T | ||
| ENST00000378169.7:c.*2606C>T | ENSP00000367411.3:n.*2606C>T | |
| ENST00000460696.1:n.1869C>T | ||
| ENST00000478423.6:n.3437C>T | ||
| ENST00000489180.6:c.*1516C>T | ENSP00000423747.1:n.*1516C>T | |
| NM_001291593.1:c.2166C>T | NP_001278522.1:p.Arg722= | |
| NM_001291594.1:c.2169C>T | NP_001278523.1:p.Arg723= | |
| NM_015102.4:c.3705C>T | NP_055917.1:p.Arg1235= | |
| NR_111987.1:n.4520C>T | ||
| XM_006710563.2:c.3705C>T | XP_006710626.1:p.Arg1235= | |
| XM_006710565.2:c.3705C>T | XP_006710628.1:p.Arg1235= | |
| XM_011541213.1:c.3702C>T | XP_011539515.1:p.Arg1234= | |
| XM_011541214.1:c.3663C>T | XP_011539516.1:p.Arg1221= | |
| XM_011541215.1:c.3594C>T | XP_011539517.1:p.Arg1198= | |
| XM_011541216.1:c.3705C>T | XP_011539518.1:p.Arg1235= | |
| XM_011541217.1:c.3705C>T | XP_011539519.1:p.Arg1235= | |
| XM_011541218.1:c.3705C>T | XP_011539520.1:p.Arg1235= | |
| XM_011541219.1:c.3651C>T | XP_011539521.1:p.Arg1217= | |
| XM_011541220.1:c.3645-696C>T | XP_011539522.1:n.3645-696C>T | |
| XM_006710563.3:c.3705C>T | XP_006710626.1:p.Arg1235= | |
| XM_011541216.2:c.3705C>T | XP_011539518.1:p.Arg1235= | |
| XM_011541217.2:c.3705C>T | XP_011539519.1:p.Arg1235= | |
| XM_011541218.2:c.3705C>T | XP_011539520.1:p.Arg1235= | |
| XM_017000996.1:c.3660C>T | XP_016856485.1:p.Arg1220= | |
| XM_017000997.1:c.3705C>T | XP_016856486.1:p.Arg1235= | |
| XM_017000998.1:c.3645-103C>T | XP_016856487.1:n.3645-103C>T | |
| XM_017000999.1:c.3177C>T | XP_016856488.1:p.Arg1059= | |
| XM_017001000.2:c.3177C>T | XP_016856489.1:p.Arg1059= | |
| XM_017001001.1:c.2907C>T | XP_016856490.1:p.Arg969= | |
| XM_017001003.1:c.2166C>T | XP_016856492.1:p.Arg722= | |
| XR_001737114.1:n.3683-696C>T | ||
| XR_001737115.1:n.3556C>T | ||
| NM_015102.5:c.3705C>T MANE Select | NP_055917.1:p.Arg1235= | |
| NM_001291593.2:c.2166C>T | NP_001278522.1:p.Arg722= | |
| NM_001291594.2:c.2169C>T | NP_001278523.1:p.Arg723= | |
| NR_111987.2:n.4472C>T |